Linked Data
ClinVar Variation Id:
17835
ClinVar RCV Id:
RCV000019413
dbSNP Id:
rs104894335
PubMed:
PMID:9745427
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49954317G>A , CM000674.2:g.49954317G>A | GRCh38 |
| NC_000012.11:g.50348100G>A , CM000674.1:g.50348100G>A | GRCh37 |
| NC_000012.10:g.48634367G>A | NCBI36 |
| NG_008913.1:g.8577G>A , LRG_717:g.8577G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000199280.4:c.523G>A (AQP2) MANE Select | ENSP00000199280.3:p.Gly175Arg | |
| ENST00000199280.3:c.523G>A (AQP2) | ENSP00000199280.3:p.Gly175Arg | |
| ENST00000550862.1:c.523G>A (AQP2) | ENSP00000450022.1:p.Gly175Arg | |
| ENST00000551526.5:c.523G>A (AQP2) | ENSP00000447148.1:p.Gly175Arg | |
| NM_000486.5:c.523G>A , LRG_717t1:c.523G>A (AQP2) | NP_000477.1:p.Gly175Arg | |
| NR_110590.1:n.288C>T (AQP5-AS1) | ||
| NR_110591.1:n.118-2229C>T (AQP5-AS1) | ||
| NM_000486.6:c.523G>A (AQP2) MANE Select | NP_000477.1:p.Gly175Arg |